Linked Data
dbSNP Id:
rs1048246030
gnomAD v2:
2-39939227-C-G
gnomAD v3:
2-39712087-C-G
gnomAD v4:
2-39712087-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39712087C>G , CM000664.2:g.39712087C>G | GRCh38 |
| NC_000002.11:g.39939227C>G , CM000664.1:g.39939227C>G | GRCh37 |
| NC_000002.10:g.39792731C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281961.3:c.652+4901C>G MANE Select | ENSP00000281961.2:n.652+4901C>G | |
| ENST00000281961.2:c.652+4901C>G | ENSP00000281961.2:n.652+4901C>G | |
| ENST00000413011.5:n.371+4901C>G | ||
| ENST00000482239.5:n.395+4901C>G | ||
| ENST00000495402.1:n.431+4901C>G | ||
| ENST00000618232.1:c.*42-4923C>G | ENSP00000477622.1:n.*42-4923C>G | |
| NM_001167959.1:c.106+4901C>G | NP_001161431.1:n.106+4901C>G | |
| NM_152390.2:c.652+4901C>G | NP_689603.2:n.652+4901C>G | |
| XM_005264144.1:c.515-4923C>G | XP_005264201.1:n.515-4923C>G | |
| XM_005264145.1:c.401-4923C>G | XP_005264202.1:n.401-4923C>G | |
| XM_017003369.1:c.*545C>G | XP_016858858.1:n.*545C>G | |
| XM_017003370.2:c.106+4901C>G | XP_016858859.1:n.106+4901C>G | |
| XM_017003371.1:c.106+4901C>G | XP_016858860.1:n.106+4901C>G | |
| XM_024452702.1:c.401-23142C>G | XP_024308470.1:n.401-23142C>G | |
| XM_024452703.1:c.106+4901C>G | XP_024308471.1:n.106+4901C>G | |
| XM_024452704.1:c.106+4901C>G | XP_024308472.1:n.106+4901C>G | |
| XM_024452705.1:c.106+4901C>G | XP_024308473.1:n.106+4901C>G | |
| NM_152390.3:c.652+4901C>G MANE Select | NP_689603.2:n.652+4901C>G | |
| NM_001167959.2:c.106+4901C>G | NP_001161431.1:n.106+4901C>G |